Darier's Disease

Darier Disease (Keratosis Follicularis)

Overview

Darier's disease (keratosis follicularis) is a rare, inherited autosomal dominant skin disorder caused by mutations in the ATP2A2 gene, which encodes a calcium pump important for cell-to-cell adhesion. It presents with greasy, warty, crusted papules in seborrheic areas (central chest, back, scalp, forehead), nail abnormalities, and sometimes mucous membrane involvement. Symptoms typically begin during adolescence and follow a chronic, relapsing course worsened by heat, humidity, and sun exposure.

Key Symptoms

  • Greasy, crusted, keratotic (warty) papules in seborrheic distribution
  • Coalescing papules forming plaques, especially on the chest, back, scalp, and forehead
  • Skin folds may develop vegetating (moist, heaped-up) plaques
  • Characteristic nail changes: longitudinal red and white bands, V-shaped nicks at the free edge
  • Flat-topped papules on the dorsal hands (acrokeratosis verruciformis-like)
  • Malodor from secondary bacterial infection of macerated plaques, worsened by heat and sweating

Affected Areas

Central chest, Back, Scalp, Forehead, Skin folds (groin, axillae), Nails

Care Instructions

  1. See a dermatologist for diagnosis and long-term management.
  2. Oral retinoids (acitretin) are the most effective systemic treatment for moderate-to-severe disease.
  3. Topical retinoids, corticosteroids, or calcineurin inhibitors for milder or localized disease.
  4. Minimize heat exposure, humidity, and excessive sweating when possible.
  5. Use sunscreen and sun-protective clothing, as UV light can trigger flares.
  6. Treat secondary bacterial or viral infections promptly — patients are susceptible to herpes simplex superinfection (eczema herpeticum).

Medical Disclaimer: This information is for educational purposes only and does not replace professional medical advice. Always consult a qualified dermatologist for diagnosis and treatment.

Prevalence: Rare; estimated prevalence of 1 in 30,000-100,000